995 resultados para 59-451


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BACKGROUND Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

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Bureau of Nutrition and Health Promotion part of the Iowa Department of Public Health produces of weekly newsletter about the Iowa WIC Program for the State of Iowa citizen.

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The Iowa Department of Transportation (DOT) requested a road safety audit (RSA) of the US 59/IA 9 intersection in northwestern Iowa, just south of the Minnesota border, to assess intersection environmental issues and crash history and recommend appropriate mitigation to address the identified safety issues at the intersection. Although the number of crashes at the location has not been significantly higher than the statewide average for similar intersections, the severity of these crashes has been of concern. This RSA was unique in that it included intersection video observation and recorded traffic conflict data analysis, along with the daylight and nighttime field reviews. This report outlines the findings and recommendations of the RSA team for addressing the safety concerns at this intersection.

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Asphalt concrete resurfacing is the most commonly utilized rehabilitation practice used by the Iowa Department of Transportation. The major problem with asphalt concrete resurfacing is the reflective cracking from underlying cracks and joints in the portland cement concrete (PCC) pavement. Cracking and seating the PCC prior to an asphalt overlay was the construction method evaluated in this project. There was cracking and seating on portions of the project and portions were overlaid without this process. There were also different overlay thicknesses used. Comparisons of crack and seating to the normal overlay method and the different depths are compared in this report. Cracking and seating results in some structural loss, but does reduce the problem of reflection cracking.

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A snapshot of water resource trends prepared by the Iowa DNR in collaboration with the Iowa Department of Agriculture and Land Stewardship, the U.S. Geological Survey, and The Iowa Homeland Security and Emergency Management Department.

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Samlingen med signum HB Ib finns vid huvudbiblioteket och innehåller böcker, småskrifter och kataloger om böcker och om bibliotek. Bok- och biblioteksväsen har särskilt intresserat bibliotekets överbibliotekarier och detta har gjort att samlingen vid huvudbiblioteket blivit mycket omfattande, över 13.600 titlar, genom ett aktivt anskaffande av speciellt utländskt material som komplement till den litteratur som från och med år 1919 erhållits som friexemplar. Huvudbibliotekets systematiska kortkatalog som går till år 1980 är finindelad i klasserna HB Ib1 – HB Ib7. HB Ib1 Bok- och biblioteksväsen, allmänt period / antal titlar -1899 / 26 1900-49 / 184 1950-59 / 155 1960-69 / 144 1970-79 / 283 HB Ib2a Bibliografier, allmänt -1899 / 39 1900-49 / 77 1950-59 / 58 1960-69 / 149 1970-79 / 152 HB Ib2b Bibliografier enligt bibliotekets klassifikationssystem -1899 / 69 1900-49 / 168 1950-59 / 168 1960-69 / 451 1970-79 / 719 HB Ib2c Bibliografier, länder -1899 / 180 1900-49 / 497 1950-59 / 190 1960-69 / 283 1970-79 / 208 HB Ib2d Bibliografier, personbibliografier -1899 / 5 1900-49 / 117 1950-59 / 72 1960-69 / 146 1970-79 / 161 HB Ib3 Bibliotek -1899 / 162 1900-49 / 949 1950-59 / 292 1960-69 / 533 1970-79 / 968 HB Ib4 Arkiv, arkivteknik, organisation -1899 / 17 1900-49 / 69 1950-59 / 25 1960-69 / 58 1970-79 / 82 HB Ib5 Bokhandel, förlag, antikvariat -1899 / 62 1900-49 / 235 1950-59 / 71 1960-69 / 81 1970-79 / 77 HB Ib6a Bokväsen, allmänt -1899 / -- 1900-49 / 2 1950-59 / 2 1960-69 / 6 1970-79 / 18 HB Ib6a Bokväsen, bibliofili -1899 / 8 1900-49 / 35 1950-59 / 8 1960-69 / 4 1970-79 / 5 HB Ib6b Bokväsen, boktryckeri, bokhistoria -1899 / 89 1900-49 / 295 1950-59 / 119 1960-69 / 139 1970-79 / 104 HB Ib6d Bokväsen, bokbindning -1899 / 4 1900-49 / 30 1950-59 / 5 1960-69 / 13 1970-79 / 13 HB Ib6e Bokväsen, exlibris -1899 / 5 1900-49 / 34 1950-59 / 5 1960-69 / 9 1970-79 / 7 HB Ib7 Utställningskataloger -1899 / 4 1900-49 / 55 1950-59 / 66 1960-69 / 49 1970-79 / 41 Från och med år 1980 har litteraturen om bok- och biblioteksväsen införts i Alma utan finfördelning, dvs allt material mellan åren 1980 och 1999 har ett gemensamt signum, HB Ib. Från och med år 2000 ingår litteraturen om bok- och biblioteksväsen vid huvudbiblioteket i en numerus currens-samling. Sökning i Alma med ämnesord ger litteratur vid hela akademibiblioteket.

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Soitinnus: viulut (2), alttoviulu, sello.